Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.
Genetic testing found pathogenic variants in 65% of Greek tuberous sclerosis complex probands.
Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.
Tuberous sclerosis complex (tuberous sclerosis complex) is an autosomal dominant multisystem genetic disorder caused by pathogenic variants in the TSC1 or TSC2 genes, resulting in dysregulation of the mTOR signaling pathway and subsequent hamartoma formation.
The aim of this study was to characterize the variant spectrum of the TSC1 and TSC2 genes in a cohort of 34 unrelated probands from Greece, 26 of whom had a definite tuberous sclerosis complex diagnosis, whereas eight had a possible tuberous sclerosis complex diagnosis.
Although the genetic basis of tuberous sclerosis complex is well established, population-specific data on TSC1 and TSC2 variants are still emerging.
Of these variants, 32% (7/22) occurred in TSC1 and 68% (15/22) in TSC2 ; seven variants (7/22; 32%) were previously unreported.
The molecular detection rate was 77% (20/26) for patients meeting the criteria for definite clinical tuberous sclerosis complex diagnosis and 25% (2/8) for those with a possible tuberous sclerosis complex diagnosis.
Exploratory genotype-phenotype analysis revealed a trend toward a more severe clinical presentation among patients harboring TSC2 variants.
These findings expand the known molecular landscape of tuberous sclerosis complex and support the clinical utility of genetic testing for diagnosis, genetic counseling, and patient management.